{"Name":"Wooly hair nevus","DiseaseID__c":"GARD:0013025","id":13025,"encodedName":"wooly-hair-nevus","IsDeleted":false,"Disease_Name_Full__c":"Wooly hair nevus","Xref_IDs__c":"239124001; C0343114; MEDGEN:575391; MONDO:0019311; ORPHA:79414","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019311","Disease_Description__c":"Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.","GARD_Name__c":"Wooly hair nevus","GARD_Synonym__c":"nevus, woolly hair, somatic; woolly hair nevus","Curated_Disease_Description_Source__c":"GARD:0013025","Curated_Disease_Description__c":"A woolly hair nevus (epidermal nevus) is a noncancerous (benign) patch of skin caused by an overgrowth of skin cells. The nevi (plural form of nevus) are seen at birth or develop in early childhood. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wart-like (verrucous) appearance. Often, woolly hair nevi follow a pattern on the skin known as the 'lines of Blaschko'. Sometimes, people with a woolly hair nevus may have problems in other body systems, such as the brain, eyes, or bones; these people are said to have an woolly hair nevus syndrome, which is a group of different disorders. Genetic changes associated with a woolly hair nevus are present only in the cells of the nevus, not in the normal skin cells surrounding it, and may involve the FGFR3, PIK3CA or, HRAS genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79414","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019311","ORPHANET_ID__c":"ORPHA:79414","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nevo de cabello lanoso","Spanish_Description_Source__c":"ORPHA:79414","Spanish_Description__c":"Es un proceso no familiar poco frecuente del tallo piloso caracterizado por un cabello fino, rizado, ensortijado e hipopigmentado, de un diámetro medio de 0,5 mm, localizado en una área circunscrita del cuero cabelludo presente en el nacimiento o de aparición durante los dos primeros años de vida. Ocasionalmente, puede presentarse en áreas inicialmente alopécicas en el período neonatal. Puede asociarse a alteraciones oculares (membrana pupilar persistente, defectos retinianos), pubertad precoz y nevos epidérmicos.","Spanish_Disease_Name__c":"nevo de cabello lanoso","Spanish_GARD_Synonym__c":"nevo de pelo lanoso","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A woolly hair nevus (epidermal nevus) is a noncancerous (benign) patch of skin caused by an overgrowth of skin cells. The nevi (plural form of nevus) are seen at birth or develop in early childhood. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wart-like (verrucous) appearance. Often, woolly hair nevi follow a pattern on the skin known as the 'lines of Blaschko'. Sometimes, people with a woolly hair nevus may have problems in other body systems, such as the brain, eyes, or bones; these people are said to have an woolly hair nevus syndrome, which is a group of different disorders. Genetic changes associated with a woolly hair nevus are present only in the cells of the nevus, not in the normal skin cells surrounding it, and may involve the FGFR3, PIK3CA or, HRAS genes.","Curated_Disease_Description_Source__c":"GARD:0013025","GARD_Synonym__c":"nevus, woolly hair, somatic; woolly hair nevus","Name":"Wooly hair nevus","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Nevus Outreach, Inc.","Website__c":"https://www.nevus.org"},{"Account_Name__c":"Ichthyosis Support Group","Website__c":"https://www.ichthyosis.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79414"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79414"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013025","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK153722","Source__c":"Gene Review","Xref__c":"NBK153722"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=575391","Source__c":"C0343114","Xref__c":"MEDGEN:575391"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=239124001","Source__c":"C0343114; MONDO:0019311","Xref__c":"239124001"},{"URL__c":"https://www.orpha.net/en/disease/detail/79414","Source__c":"C0343114; MONDO:0019311; ORPHA:79414","Xref__c":"ORPHA:79414"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0343114","Source__c":"C0343114","Xref__c":"C0343114"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019311","Source__c":"GARD:0013025","Xref__c":"MONDO:0019311"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HRAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hras","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002212","HPO_Synonym__c":"Curly hair","HPO_Name__c":"Curly hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009917","HPO_Name__c":"Persistent pupillary membrane","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of hair in the occipital region of the scalp with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007534","HPO_Name__c":"Congenital posterior occipital alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006304","HPO_Synonym__c":"Anterior diastema of teeth; Gap between front teeth; Widely spaced front teeth","HPO_Name__c":"Widely-spaced incisors","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040149","HPO_Synonym__c":"Wooly scalp hair","HPO_Name__c":"Woolly scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased size of the vestibular aqueduct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011387","HPO_Synonym__c":"Dilated vestibular aqueduct; Widened vestibular aqueduct","HPO_Name__c":"Enlarged vestibular aqueduct","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034275","HPO_Name__c":"Verrucous epidermal nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000826","HPO_Synonym__c":"Early onset of puberty; Early puberty","HPO_Name__c":"Precocious puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced pigmentation of hair in patches.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011365","HPO_Name__c":"Patchy hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["nevus, woolly hair, somatic"," woolly hair nevus"],"spanishId":13026,"spanishName":"nevo-epidermico"}